Genetic Testing for Heart Disease Unexpectedly Found Now What?

Genetic Testing for Heart Disease Unexpectedly Found Now What? ...

The increasing use of genetic testing among healthcare professionals, researchers, and consumers has resulted in the discovery of unexpected genetic abnormalities linked to cardiovascular diseases. However, the American Heart Association cautions that not all identified single gene variations necessarily suggest risk factors. A new scientific statement provides a framework for healthcare professionals to assess genetic variants accurately, communicate findings with patients and their families, and establish robust multidisciplinary teams for tailored care when necessary.

A new American Heart Association scientific statement enables us to interpret accidentally discovered gene variants that might be linked to cardiovascular disease risk.

  • As healthcare professionals, researchers, and consumers increasingly use genetic testing, they are uncovering incidental genetic abnormalities, or variants, that are associated with cardiovascular diseases.
  • The AHA statement writing committee cautions that incidentally identified single gene variants may or may not be risk factors for disease, so it is important to interpret them correctly and cautiously.
  • The new scientific statement offers a framework to support healthcare professionals in appropriately assessing individual genetic variants, communicating findings with patients and families, and, when needed, how to create a strong multidisciplinary team for individualized care.

People may discover they have a gene variation associated with certain types of cardiovascular disease (CVD), according to an increasing scientific paper published today (March 27, 2023) in the American Heart Association's journal Circulation: Genomic and Precision Medicine. The goal of this article is to assist individuals and healthcare professionals in determining what to do when a variation is discovered.

The new American Heart Association scientific statement, "Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease," provides guidance to healthcare professionals on how to communicate with individuals and their families, and recommends appropriate follow-up measures for people with CVD variants.

When people undergo genetic testing for non-cardiac reasons, such as screening or diagnosis of other diseases, they may discover unexpected genetic variations using direct-to-consumer testing.

To properly prepare patients for unexpected findings, how and when will findings be communicated, and possible consequences for themselves and family members, pretest genetic counseling is strongly encouraged.

Andrew P. Landstrom, M.D., FAHA, chair of the scientific statement writing committee and associate professor of pediatrics and cell biology at Duke University School of Medicine in Durham, North Carolina, claims that genetic testing has expanded significantly in the last decade.

"It may lead to inappropriate treatment, either by implying that patients are at risk of cardiac disease when they do not," or by failing to provide care to individuals at higher risk for a serious illness."

According to the American College of Medical Genetics and Genomics, this statement is the first to focus on inherited monoogenic, or single-gene, CVD conditions that can be passed on within families, such as hypertrophic cardiomyopathy or long QT syndrome.

The authors of the report suggest a framework for interpreting the variation and determining whether it is benign, uncertain, or pathogenic (disease-causing): Once a CVD incidental genetic variation is discovered, the authors suggest a method:

  • Healthcare professionals should only relay information to patients about incidentally identified variants if they are among the cardiovascular disease genes already known to be associated with CVD and if patients agreed during pretest genetic counseling to be informed about incidental findings.
  • Incidentally identified variants in genes with an uncertain association with CVD should not be reported.
  • If the discovered variant may increase the risk of CVD, a family history and medical evaluation by an expert health care professional are suggested, preferably a specialist working with or within a multidisciplinary team to address in the disease in question. The goal of this evaluation is to determine whether the individual has evidence of the disease, such as symptoms or relevant test results, or if there are any warning signs in the family history.
  • The genetic variant itself should be re-evaluated periodically by an expert or expert team to ensure whether the CVD link remains accurate. As knowledge about a variant evolves over time, its link to disease may be reclassified.
  • Finally, the medical evaluation and genetic re-evaluation should guide next steps, which may vary from dismissing the incidental variant as not likely to cause CVD to starting medical interventions. This may also involve periodic re-evaluation with appropriate tests (echocardiogram, blood tests, etc.) and possibly screening other family members for the variant.

“The list of incidental cardiovascular disease variations is expanding. This statement provides a foundation of care that may help individuals with a CVD-related genetic variation and their health care providers determine the individual and familial risk that a variant may or may not carry,” Landstrom said. “It’s also important to consult with genetics specialists to ensure the highest level of care possible.”

Circulation Genomic and Precision Medicine, 27 March 2023, Reference: "Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association"

Anwar A. Chahal, M.B.Ch.B., M.R.C.P., vice chair; Michael J. Ackerman, M.D., Ph.D.; Alanna A. Morris, M.D., Ph.D.; Georgia Sarquella-Brugada, M.D., Ph.D., Svati H. Shah, M.D., L.C.G.C. Authors' disclosures are listed in the manuscript.

Foundations and corporations (including pharmaceutical, medical device manufacturers, and other organizations) make donations and finance specific Association programs and events. The Association has established procedures to prevent these interactions from influencing the science content.

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